ORPHA:254361
Plectin-related limb-girdle muscular dystrophy R17
Synonyms: Autosomal recessive limb-girdle muscular dystrophy type 2Q · LGMD type 2Q · LGMD2Q · Limb-girdle muscular dystrophy type 2Q · Plectin-related LGMD R17
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Childhood
- Status
- active
A form of limb-girdle muscular dystrophy characterized by proximal muscle weakness presenting in early childhood (with occasional falls and difficulties in climbing stairs) and a progressive course resulting in loss of ambulation in early adulthood. Muscle atrophy and multiple contractures have also been reported in rare cases.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Plectin-related limb-girdle muscular dystrophy R17 | Autosomal recessive limb-girdle muscular dystrophy type 2Q · LGMD type 2Q · LGMD2Q · Limb-girdle muscular dystrophy type 2Q · Plectin-related LGMD R17 |
| fr | Dystrophie musculaire des ceintures liée à la plectine R17 | Dystrophie musculaire des ceintures type 2Q · Dystrophie musculaire des ceintures autosomique récessive type 2Q · LGMD liée à la plectine R17 · LGMD type 2Q · LGMD2Q |
| de | Plectin-assoziierte Gliedergürtelmuskeldystrophie R17 | Gliedergürtelmuskeldystrophie Typ 2Q · Gliedergürtelmuskeldystrophie, autosomal-rezessive, Typ 2Q · LGMD Typ 2Q · LGMD2Q · Plectin-assoziiertes LGMD R17 |
| es | Distrofia muscular de cinturas R17 asociada a plectina | Distrofia muscular de cinturas autosómica recesiva por deficiencia de plectina · Distrofia muscular de cinturas autosómica recesiva tipo 2Q · LGMD2Q |
| it | Distrofia muscolare dei cingoli, autosomica recessiva, tipo 2 | Distrofia muscolare dei cingoli, autosomica recessiva, da deficit di plectina · LGMD2Q |
| nl | Plectine-gerelateerde limb-girdle-spierdystrofie R17 | Autosomaal recessieve bekken- en schoudergordel-spierdystrofie type 2Q · Autosomaal recessieve ledemaatgordel-spierdystrofie type 2Q · Autosomaal recessieve limb-girdle-spierdystrofie type 2Q · LGMD type 2Q · LGMD2Q · Limb-girdle-spierdystrofie type 2Q · Plectine-gerelateerde LGMD R17 |
| pt | Distrofia muscular das cinturas dos membros R17 plectina-relacionada | Distrofia muscular das cinturas dos membros por deficiência de plectina autossómica recessiva · LGMD2Q |
| pl | Autosomalna recesywna dystrofia obręczowo-kończynowa typu 2Q | Autosomalna recesywna dystrofia obręczowo-kończynowa z powodu niedoboru plektyny · LGMD2Q |
| cs | Autozomálně recesivní svalová dystrofie končetinového pletence, typ 2Q | LGMD2Q · Autozomálně recesivní svalová dystrofie končetinového pletence způsobená deficitem plektinu |
| uk | Плектинова кінцівково-поясна мязова дистрофія R17 | Аутосомно-рецесивна мязова дистрофія мязів пояса кінцівок, тип 2Q · LGMD тип 2Q · LGMD2Q · Мязова дистрофія мязів поясу кінцівок, тип 2Q · LGMD R17, повязаний з плектином |
| zh | 网蛋白相关性R17型肢带型肌营养不良症 | 常染色体隐性遗传肢带型肌营养不良症2Q型 |
| tr | Plektin-ilişkili ekstremite-kuşak kas distrofisi R17 | LGMD2Q · LGMD tip 2Q · Plectin-ilişkili LGMD R17 · Ekstremite-kavşak tipi kas distrofisi tip 2Q · Otozomal çekinik ekstremite-kavşak tipi kas distrofisi tip 2Q |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 613723 | E | validated | |
| ICD-10 | G71.0 | NTBT | attributed | validated |
| MONDO | 0013390 | E | validated | |
| UMLS | C3150989 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:102015Autosomal recessive limb-girdle muscular dystrophy
rare genetic diseases; rare neurological diseases - ORPHA:209196Qualitative or quantitative defects of plectin
rare genetic diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| PLEC | Disease-causing germline mutation(s) in | Assessed | HGNC:9069 | ENSG00000178209 | 601282 | 8q24.3 | plectin | 20301582[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 6 cases | Worldwide | Case(s) | Validated | 21109228[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_21109228[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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HPO phenotypes
35 annotations · validated 2019-03-04| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0009073 | Progressive proximal muscle weakness | |
| Frequent (79-30%) | ||
| HP:0040287 | Axial muscle atrophy | |
| HP:0003551 | Difficulty climbing stairs | |
| HP:0003458 | EMG: myopathic abnormalities | |
| HP:0003236 | Elevated circulating creatine kinase concentration | |
| HP:0002359 | Frequent falls | |
| HP:0003391 | Gowers sign | |
| HP:0003325 | Limb-girdle muscle weakness | |
| HP:0002505 | Loss of ambulation | |
| HP:0001270 | Motor delay | |
| HP:0003749 | Pelvic girdle muscle weakness | |
| HP:0003202 | Skeletal muscle atrophy | |
| Occasional (29-5%) | ||
| HP:0001771 | Achilles tendon contracture | |
| HP:0001284 | Areflexia | |
| HP:0430025 | Bilateral facial palsy | |
| HP:0001488 | Bilateral ptosis | |
| HP:0008981 | Calf muscle hypertrophy | |
| HP:0002194 | Delayed gross motor development | |
| HP:0009053 | Distal lower limb muscle weakness | |
| HP:0002015 | Dysphagia | |
| HP:0003324 | Generalized muscle weakness | |
| HP:0001263 | Global developmental delay | |
| HP:0001611 | Hypernasal speech | |
| HP:0025435 | Increased circulating lactate dehydrogenase concentration | |
| HP:0040266 | Proximal upper limb muscle hypertrophy | |
| Very rare (<4-1%) | ||
| HP:0001626 | Abnormality of the cardiovascular system | |
| HP:0002086 | Abnormality of the respiratory system | |
| HP:0100750 | Atelectasis | |
| HP:0011950 | Bronchiolitis | |
| HP:0004631 | Decreased cervical spine flexion due to contractures of posterior cervical muscles | |
| HP:0002875 | Exertional dyspnea | |
| HP:0002206 | Pulmonary fibrosis | |
| HP:0011712 | Right bundle branch block | |
| Excluded (0%) | ||
| HP:0000951 | Abnormality of the skin | |
| HP:0030208 | Acetylcholine receptor antibody positivity | |
Run the differential on the 1 obligate / very frequent terms
Annotation source: 22864774[PMID]_28447722[PMID]_28824526[PMID]_25556389[PMID]_21109228[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/254361
- This record as JSON: /data/d/254361.json